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Results 1 - 1 of 1 for Autosomal recessive spinocerebellar ataxia 17
  1. TWNK gene 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics